Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

107 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Allogeneic bone marrow transplantation in craniometaphyseal dysplasia.
Morelle G, Breton S, Robert MP, Michot C, Boussard C, Cormier-Daire V, Moshous D. Morelle G, et al. Among authors: michot c. Lancet. 2024 May 11;403(10439):1893-1894. doi: 10.1016/S0140-6736(24)00803-1. Lancet. 2024. PMID: 38734477 No abstract available.
Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4.
Valayannopoulos V, Michot C, Rodriguez D, Hubert L, Saillour Y, Labrune P, de Laveaucoupet J, Brunelle F, Amiel J, Lyonnet S, Enza-Razavi F, Attié-Bitach T, Lacombe D, Bahi-Buisson N, Desguerre I, Chelly J, Burglen L, Boddaert N, de Lonlay P. Valayannopoulos V, et al. Among authors: michot c. Brain. 2012 Jan;135(Pt 1):e199; author reply e200. doi: 10.1093/brain/awr108. Epub 2011 May 23. Brain. 2012. PMID: 21609947 No abstract available.
Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis.
Michot C, Le Goff C, Goldenberg A, Abhyankar A, Klein C, Kinning E, Guerrot AM, Flahaut P, Duncombe A, Baujat G, Lyonnet S, Thalassinos C, Nitschke P, Casanova JL, Le Merrer M, Munnich A, Cormier-Daire V. Michot C, et al. Am J Hum Genet. 2012 Apr 6;90(4):740-5. doi: 10.1016/j.ajhg.2012.03.003. Epub 2012 Mar 29. Am J Hum Genet. 2012. PMID: 22464250 Free PMC article.
Finger creases lend a hand in Kabuki syndrome.
Michot C, Corsini C, Sanlaville D, Baumann C, Toutain A, Philip N, Busa T, Holder M, Faivre L, Odent S, Delrue MA, Till M, Jacquemont ML, Cordier MP, Goldenberg A, Sanchez E, Alix E, Poisson S, Kayirangwa H, Lacombe D, Gilbert-Dussardier B, Pelet A, Roume J, Jacquette A, Isidor B, Giuliano F, Burglen L, Fradin M, Schaefer E, Alembick Y, Doray B, Moncla A, Héron D, Willems M, Pinson L, Le Quan Sang KH, Le Merrer M, Cormier-Daire V, Sarda P, Amiel J, Lyonnet S, Geneviève D. Michot C, et al. Eur J Med Genet. 2013 Oct;56(10):556-60. doi: 10.1016/j.ejmg.2013.07.005. Epub 2013 Aug 7. Eur J Med Genet. 2013. PMID: 23933090 Free article.
Myhre and LAPS syndromes: clinical and molecular review of 32 patients.
Michot C, Le Goff C, Mahaut C, Afenjar A, Brooks AS, Campeau PM, Destree A, Di Rocco M, Donnai D, Hennekam R, Heron D, Jacquemont S, Kannu P, Lin AE, Manouvrier-Hanu S, Mansour S, Marlin S, McGowan R, Murphy H, Raas-Rothschild A, Rio M, Simon M, Stolte-Dijkstra I, Stone JR, Sznajer Y, Tolmie J, Touraine R, van den Ende J, Van der Aa N, van Essen T, Verloes A, Munnich A, Cormier-Daire V. Michot C, et al. Eur J Hum Genet. 2014 Nov;22(11):1272-7. doi: 10.1038/ejhg.2013.288. Epub 2014 Jan 15. Eur J Hum Genet. 2014. PMID: 24424121 Free PMC article.
Myhre syndrome.
Le Goff C, Michot C, Cormier-Daire V. Le Goff C, et al. Among authors: michot c. Clin Genet. 2014 Jun;85(6):503-13. doi: 10.1111/cge.12365. Epub 2014 Apr 2. Clin Genet. 2014. PMID: 24580733 Review.
Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome.
Lin AE, Michot C, Cormier-Daire V, L'Ecuyer TJ, Matherne GP, Barnes BH, Humberson JB, Edmondson AC, Zackai E, O'Connor MJ, Kaplan JD, Ebeid MR, Krier J, Krieg E, Ghoshhajra B, Lindsay ME. Lin AE, et al. Among authors: michot c. Am J Med Genet A. 2016 Oct;170(10):2617-31. doi: 10.1002/ajmg.a.37739. Epub 2016 Jun 14. Am J Med Genet A. 2016. PMID: 27302097 Review.
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.
Kuentz P, St-Onge J, Duffourd Y, Courcet JB, Carmignac V, Jouan T, Sorlin A, Abasq-Thomas C, Albuisson J, Amiel J, Amram D, Arpin S, Attie-Bitach T, Bahi-Buisson N, Barbarot S, Baujat G, Bessis D, Boccara O, Bonnière M, Boute O, Bursztejn AC, Chiaverini C, Cormier-Daire V, Coubes C, Delobel B, Edery P, Chehadeh SE, Francannet C, Geneviève D, Goldenberg A, Haye D, Isidor B, Jacquemont ML, Khau Van Kien P, Lacombe D, Martin L, Martinovic J, Maruani A, Mathieu-Dramard M, Mazereeuw-Hautier J, Michot C, Mignot C, Miquel J, Morice-Picard F, Petit F, Phan A, Rossi M, Touraine R, Verloes A, Vincent M, Vincent-Delorme C, Whalen S, Willems M, Marle N, Lehalle D, Thevenon J, Thauvin-Robinet C, Hadj-Rabia S, Faivre L, Vabres P, Rivière JB. Kuentz P, et al. Among authors: michot c. Genet Med. 2017 Sep;19(9):989-997. doi: 10.1038/gim.2016.220. Epub 2017 Feb 2. Genet Med. 2017. PMID: 28151489 Free article.
Sleep-disordered breathing and its management in children with achondroplasia.
Tenconi R, Khirani S, Amaddeo A, Michot C, Baujat G, Couloigner V, De Sanctis L, James S, Zerah M, Cormier-Daire V, Fauroux B. Tenconi R, et al. Among authors: michot c. Am J Med Genet A. 2017 Apr;173(4):868-878. doi: 10.1002/ajmg.a.38130. Epub 2017 Feb 27. Am J Med Genet A. 2017. PMID: 28239978
107 results